Variant report

Variant	rs13123359
Chromosome Location	chr4:174095912-174095913
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:174094706..174097585-chr4:174104711..174106711,3	MCF-7	breast:
2	chr4:174094346..174096240-chr4:174110007..174112423,2	K562	blood:
3	chr4:174088223..174092682-chr4:174092972..174099857,11	MCF-7	breast:
4	chr4:174091292..174097320-chr4:174098048..174101316,8	K562	blood:

Variant related genes	Relation type
ENSG00000245213	Chromatin interaction
ENSG00000109586	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10005325	0.88[EUR][1000 genomes]
rs10520255	0.90[EUR][1000 genomes]
rs10520256	0.91[EUR][1000 genomes]
rs11942280	0.90[EUR][1000 genomes]
rs13102038	0.90[EUR][1000 genomes]
rs13116270	0.91[EUR][1000 genomes]
rs13117810	0.95[EUR][1000 genomes]
rs13120215	0.95[EUR][1000 genomes]
rs13141844	0.83[EUR][1000 genomes]
rs13142524	0.90[EUR][1000 genomes]
rs13151627	0.90[EUR][1000 genomes]
rs17059205	0.86[EUR][1000 genomes]
rs17059207	0.91[EUR][1000 genomes]
rs17059217	0.85[EUR][1000 genomes]
rs2332657	0.86[EUR][1000 genomes]
rs2332658	0.86[EUR][1000 genomes]
rs28361970	0.91[EUR][1000 genomes]
rs28413646	0.87[EUR][1000 genomes]
rs28694391	0.83[EUR][1000 genomes]
rs34285915	0.81[EUR][1000 genomes]
rs34718403	0.95[EUR][1000 genomes]
rs35576170	0.87[EUR][1000 genomes]
rs35730812	0.83[EUR][1000 genomes]
rs35796775	0.82[EUR][1000 genomes]
rs36050097	0.87[EUR][1000 genomes]
rs4608791	0.83[EUR][1000 genomes]
rs4695827	0.90[EUR][1000 genomes]
rs4696050	0.86[EUR][1000 genomes]
rs55661507	0.83[ASN][1000 genomes]
rs57130388	0.91[ASN][1000 genomes]
rs57476920	0.87[ASN][1000 genomes]
rs57715340	0.91[ASN][1000 genomes]
rs60388714	0.91[ASN][1000 genomes]
rs60699343	0.91[ASN][1000 genomes]
rs62341096	0.92[EUR][1000 genomes]
rs6553686	0.85[EUR][1000 genomes]
rs6822924	0.90[EUR][1000 genomes]
rs6858043	0.82[EUR][1000 genomes]
rs722826	1.00[EUR][1000 genomes]
rs722827	1.00[EUR][1000 genomes]
rs72993766	0.91[ASN][1000 genomes]
rs72993775	0.91[ASN][1000 genomes]
rs72993786	0.91[ASN][1000 genomes]
rs72993793	0.91[ASN][1000 genomes]
rs72994569	0.95[ASN][1000 genomes]
rs72994571	1.00[ASN][1000 genomes]
rs72994573	1.00[ASN][1000 genomes]
rs72994575	1.00[ASN][1000 genomes]
rs72994583	0.91[ASN][1000 genomes]
rs72994586	0.91[ASN][1000 genomes]
rs72994588	0.91[ASN][1000 genomes]
rs72995610	0.91[ASN][1000 genomes]
rs72995612	0.91[ASN][1000 genomes]
rs72999528	0.83[ASN][1000 genomes]
rs7661977	0.95[EUR][1000 genomes]
rs7667345	0.83[EUR][1000 genomes]
rs7668473	0.89[EUR][1000 genomes]
rs7673747	0.91[EUR][1000 genomes]
rs9685410	0.83[EUR][1000 genomes]
rs9991863	0.86[EUR][1000 genomes]
rs9995556	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1793960	chr4:174090004-174102397	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv1801469	chr4:174090004-174102397	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv1799519	chr4:174090004-174173743	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv1823585	chr4:174090209-174107537	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174091600-174113600	Weak transcription	Esophagus	oesophagus
2	chr4:174091800-174104000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr4:174092000-174096800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr4:174092000-174098600	Weak transcription	Brain Angular Gyrus	brain
5	chr4:174092200-174096200	Enhancers	Duodenum Mucosa	Duodenum
6	chr4:174092200-174096400	Enhancers	Stomach Mucosa	stomach
7	chr4:174092200-174098800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:174092200-174099000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr4:174092200-174099000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr4:174092400-174100400	Weak transcription	Hela-S3	cervix
11	chr4:174092600-174096800	Enhancers	Primary hematopoietic stem cells	blood
12	chr4:174092600-174097800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:174092600-174099200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:174092600-174099200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr4:174092600-174102400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:174092800-174096000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:174092800-174096000	Enhancers	A549	lung
18	chr4:174092800-174096200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr4:174092800-174098600	Enhancers	Fetal Thymus	thymus
20	chr4:174092800-174099200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr4:174092800-174099400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:174092800-174100400	Weak transcription	NHEK	skin
23	chr4:174092800-174101000	Weak transcription	HSMM	muscle
24	chr4:174092800-174103200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:174092800-174103600	Weak transcription	Aorta	Aorta
26	chr4:174092800-174106000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr4:174092800-174109000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:174093000-174096800	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr4:174093000-174102200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr4:174093400-174097600	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr4:174093600-174097000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:174093600-174102400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:174093600-174109800	Weak transcription	Gastric	stomach
34	chr4:174093800-174105000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:174094000-174096600	Weak transcription	Spleen	Spleen
36	chr4:174094000-174097000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr4:174094200-174096000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:174094200-174096800	Enhancers	Dnd41	blood
39	chr4:174094200-174102800	Weak transcription	Brain Anterior Caudate	brain
40	chr4:174094600-174096200	Enhancers	Primary B cells from peripheral blood	blood
41	chr4:174094600-174096800	Enhancers	Primary B cells from cord blood	blood
42	chr4:174094600-174098600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr4:174094800-174096000	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr4:174094800-174096000	Flanking Active TSS	GM12878-XiMat	blood
45	chr4:174095000-174096200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr4:174095000-174096200	Enhancers	Fetal Intestine Small	intestine
47	chr4:174095000-174096800	Flanking Active TSS	K562	blood
48	chr4:174095000-174109400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr4:174095200-174096200	Enhancers	Fetal Intestine Large	intestine
50	chr4:174095200-174096800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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